Clinical and research tests for C1864436 - Genetic Testing Registry (GTR)

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Results: 21 to 40 of 79

Tests names and labs	Conditions	Genes, analytes, and microbes	Methods
Overgrowth and Macrocephaly Syndromes Panel PreventionGenetics, part of Exact Sciences United States	145	112	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Hypospadias Panel PreventionGenetics, part of Exact Sciences United States	156	73	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Facial Dysostosis Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	33	19	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Craniosynostosis and Related Disorders Panel PreventionGenetics, part of Exact Sciences United States	19	5	D Deletion/duplication analysis C Sequence analysis of the entire coding region T Targeted variant analysis
Achondroplasia Mutation Panel Baylor Genetics United States	12	1	S Mutation scanning of the entire coding region
Craniodysmorphology Screen (Targeted FGFR1,2, and 3) Center for Genetics at Saint Francis Saint Francis Hospital United States	7	3	E Sequence analysis of select exons T Targeted variant analysis
Periventricular heterotopia panel Genologica Medica Spain	52	20	C Sequence analysis of the entire coding region
Achondroplasia Genologica Medica Spain	14	1	C Sequence analysis of the entire coding region
Craniosynostosis panel. NGS panel of 37 genes. Genologica Medica Spain	113	37	C Sequence analysis of the entire coding region
Central skeletal dysplasias panel. NGS panel of 111 genes. Genologica Medica Spain	258	111	C Sequence analysis of the entire coding region
Micromelic dysplasia panel. NGS panel of 27 genes. Genologica Medica Spain	83	27	C Sequence analysis of the entire coding region
Metaphyseal dysplasia panel. NGS panel of 11 genes. Genologica Medica Spain	42	11	C Sequence analysis of the entire coding region
Skeletal diseases. NGS panel of 169 genes. Genologica Medica Spain	373	169	C Sequence analysis of the entire coding region
Achondroplasia Genologica Medica Spain	14	1	C Sequence analysis of the entire coding region
FGFR3 Institute for Human Genetics University Medical Center Freiburg Germany	14	1	C Sequence analysis of the entire coding region
Achondroplasia (FGFR3 Single Gene Test) Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Muenke Syndrome (FGFR3 Single Gene Test) Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Neonatal Epilepsy NGS Panel Fulgent Genetics United States	509	275	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Micromelic Dysplasia NGS Panel Fulgent Genetics United States	140	24	D Deletion/duplication analysis C Sequence analysis of the entire coding region
Thanatophoric Dysplasia (FGFR3 Single Gene Test) Fulgent Genetics United States	12	1	D Deletion/duplication analysis C Sequence analysis of the entire coding region

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Results: 21 to 40 of 79

IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.

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Results: 21 to 40 of 79

Results: 21 to 40 of 79